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Menkes disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0010651

A usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair. [ https://orcid.org/0000-0001-5208-3432 Orphanet:565 ]

Synonyms: kinky hair syndrome Menkes kinky hair syndrome MNK steely hair syndrome X-linked copper deficiency Trichopoliodystrophy kinky hair disease Menkes disease menkes disease, X-linked recessive MD Menkes syndrome Menkes kinky-hair syndrome steely hair disease Mk

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:1521 (Orphanet:565)
  • Orphanet:565 (OMIM:309400)
  • UMLS:C0022716 (Orphanet:565/e)
  • NCIT:C75486 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • OMIM:309400 (Orphanet:565/e)
  • DOID:1838 (MONDO:equivalentTo)
  • MedDRA:10027294 (Orphanet:565/e)
  • SCTID:59178007 (MONDO:equivalentTo)
  • NORD:1440 (MONDO:NORD)
  • MESH:D007706 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

closeMatch

http://identifiers.org/meddra/10027294

exactMatch

http://www.orpha.net/ORDO/Orphanet_565

http://linkedlifedata.com/resource/umls/id/C0022716

http://identifiers.org/snomedct/59178007

https://omim.org/entry/309400

http://purl.obolibrary.org/obo/DOID_1838

http://identifiers.org/mesh/D007706

http://purl.obolibrary.org/obo/NCIT_C75486

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019282

http://purl.obolibrary.org/obo/MONDO_0002917

http://purl.obolibrary.org/obo/MONDO_0020189

has broad synonym

copper transport disease

has related synonym

Menkea syndrome

id

MONDO:0010651

seeAlso

https://rarediseases.info.nih.gov/diseases/1521/menkes-disease

https://search.clinicalgenome.org/kb/conditions/MONDO:0010651